Atelosteogenesis type 2

Reviewed February 2008

What is atelosteogenesis type 2?

Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).

The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.

How common is atelosteogenesis type 2?

Atelosteogenesis type 2 is an extremely rare genetic disorder; its incidence is unknown.

What genes are related to atelosteogenesis type 2?

Atelosteogenesis type 2 is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis type 2.

Related Gene(s)

Changes in this gene are associated with atelosteogenesis type 2.

SLC26A2

How do people inherit atelosteogenesis type 2?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of atelosteogenesis type 2?

These resources address the diagnosis or management of atelosteogenesis type 2 and may include treatment providers.

Gene Review: Atelosteogenesis Type II (http://www.ncbi.nlm.nih.gov/books/NBK1317/)
Genetic Testing Registry: Atelosteogenesis type 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1850554)

You might also find information on the diagnosis or management of atelosteogenesis type 2 in Educational resources (http://www.ghr.nlm.nih.gov/condition/atelosteogenesis-type-2/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/atelosteogenesis-type-2/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about atelosteogenesis type 2?

You may find the following resources about atelosteogenesis type 2 helpful. These materials are written for the general public.

MedlinePlus - Health information
- Health Topic: Bone Diseases (http://www.nlm.nih.gov/medlineplus/bonediseases.html)
- Health Topic: Dwarfism (http://www.nlm.nih.gov/medlineplus/dwarfism.html)
- Health Topic: Respiratory Failure (http://www.nlm.nih.gov/medlineplus/respiratoryfailure.html)
Additional NIH Resources - National Institutes of Health
National Institute of Arthritis and Musculoskeletal and Skin Diseases: Questions and Answers about Heritable Disorders of Connective Tissue (http://www.niams.nih.gov/Health_Info/Connective_Tissue/)
Educational resources - Information pages
Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=56304)
Patient support - For patients and families
- European Skeletal Dysplasia Network (http://www.esdn.org/eug/Home)
- Family Village: Growth Disorders (http://www.familyvillage.wisc.edu/lib_grow.htm)
- Human Growth Foundation (http://www.hgfound.org/)
- Little People of America (http://www.lpaonline.org/)
- Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/dwarfism.html)
- The Compassionate Friends (http://www.compassionatefriends.org/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1317/)
Genetic Testing Registry - Repository of genetic test information
- Genetic Testing Registry: Atelosteogenesis type 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1850554)
PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((type%202%5BTIAB%5D%20AND%20atelosteogenesis%5BTIAB%5D)%20OR%20(type%20ii%5BTIAB%5D%20AND%20atelosteogenesis%5BTIAB%5D)%20OR%20(atelosteogenesis%20de%20la%20chapelle%20type%5BTIAB%5D)%20OR%20(de%20la%20chapelle%20dysplasia%5BTIAB%5D)%20OR%20(mcalister%20dysplasia%5BTIAB%5D)%20OR%20(neonatal%20osseous%20dysplasia%201%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/256050)

What other names do people use for atelosteogenesis type 2?

AO2
Atelosteogenesis de la Chapelle type
atelosteogenesis, type 2
De la Chapelle dysplasia
McAlister dysplasia
Neonatal osseous dysplasia 1

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about atelosteogenesis type 2?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding atelosteogenesis type 2?

autosomal ; autosomal recessive ; cartilage ; cell ; cleft palate ; clubfoot ; dysplasia ; gene ; incidence ; neonatal ; palate ; protein ; recessive ; respiratory ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

Gene Review: Atelosteogenesis Type II (http://www.ncbi.nlm.nih.gov/books/NBK1317/)
Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet. 1996 Feb;58(2):255-62. (http://www.ncbi.nlm.nih.gov/pubmed/8571951?dopt=Abstract)
Newbury-Ecob R. Atelosteogenesis type 2. J Med Genet. 1998 Jan;35(1):49-53. Review. (http://www.ncbi.nlm.nih.gov/pubmed/9475095?dopt=Abstract)
Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001 Mar;17(3):159-71. Erratum in: Hum Mutat 2001;18(1):82. (http://www.ncbi.nlm.nih.gov/pubmed/11241838?dopt=Abstract)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.